Canonical Allele Identifier: CA339848766

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089504C>A , CM000663.2:g.40089504C>A	GRCh38
NC_000001.10:g.40555176C>A , CM000663.1:g.40555176C>A	GRCh37
NC_000001.9:g.40327763C>A	NCBI36
NG_009192.1:g.12967G>T , LRG_690:g.12967G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.442G>T MANE Select	NP_000301.1:p.Gly148Ter
ENST00000642050.2:c.442G>T MANE Select	ENSP00000493153.1:p.Gly148Ter
NM_000310.3:c.442G>T , LRG_690t1:c.442G>T	NP_000301.1:p.Gly148Ter
NM_001142604.1:c.133G>T	NP_001136076.1:p.Gly45Ter
NM_001142604.2:c.133G>T	NP_001136076.1:p.Gly45Ter
NM_001363695.1:c.442G>T	NP_001350624.1:p.Gly148Ter
NM_001363695.2:c.442G>T	NP_001350624.1:p.Gly148Ter
ENST00000372779.8:c.529G>T	ENSP00000361865.4:p.Gly177Ter
ENST00000372779.9:c.*278G>T	ENSP00000361865.5:n.*278G>T
ENST00000433473.7:c.442G>T	ENSP00000394863.3:p.Gly148Ter
ENST00000433473.8:c.439G>T	ENSP00000394863.4:p.Gly147Ter
ENST00000439754.5:c.127G>T	ENSP00000403207.1:p.Gly43Ter
ENST00000439754.6:c.442G>T	ENSP00000403207.2:p.Gly148Ter
ENST00000449045.6:c.133G>T	ENSP00000392293.2:p.Gly45Ter
ENST00000449045.7:c.133G>T	ENSP00000392293.2:p.Gly45Ter
ENST00000526547.1:c.292G>T	ENSP00000436481.1:p.Gly98Ter
ENST00000526547.2:c.722G>T
ENST00000527311.6:c.217G>T	ENSP00000436695.2:p.Gly73Ter
ENST00000527311.7:c.305+1825G>T	ENSP00000436695.3:n.305+1825G>T
ENST00000529905.5:c.442G>T	ENSP00000432053.1:p.Gly148Ter
ENST00000530704.5:c.*65G>T	ENSP00000431655.1:n.*65G>T
ENST00000530704.6:c.*65G>T	ENSP00000431655.1:n.*65G>T
ENST00000641083.1:c.420G>T
ENST00000641236.1:n.679G>T
ENST00000641319.1:c.442G>T	ENSP00000493128.1:p.Gly148Ter
ENST00000641381.1:c.54G>T
ENST00000641471.1:c.529G>T	ENSP00000493146.1:p.Gly177Ter
ENST00000641691.1:c.*294G>T	ENSP00000492910.1:n.*294G>T
ENST00000641924.1:c.124+7611G>T	ENSP00000493063.1:n.124+7611G>T
XM_005271008.1:c.442G>T	XP_005271065.1:p.Gly148Ter